Varaico: Literature-Extracted Genetic Variants

Gene:SPPL3
Variant:p.D271N
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SPPL3

NM_139015.5:p.D271N

Associated Papers

GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway.

Brauer BK et al.

The Embo Journal, 2024

Shedding of glycan-modifying enzymes by signal peptide peptidase-like 3 (SPPL3) regulates cellular N-glycosylation.

Voss M et al.

The Embo Journal, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."